WormBase Tree Display for DO_term: DOID:0080291
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| DOID:0080291 | Name | developmental and epileptic encephalopathy 59 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. | ||||
| Synonym | Exact | DEE59 | |||
| early infantile epileptic encephalopathy 59 | |||||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0112202 | |||||
| DB_info | Database | OMIM | disease | 617904 | |
| Attribute_of | Gene_by_orthology | WBGene00022675 |
